Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.6072369G>A	CA478105725	VWF	c.1071C>T (p.Tyr357=) n.420+38146C>T
12	g.6072369G>C	CA383505255	VWF	c.1071C>G (p.Tyr357Ter) n.420+38146C>G
12	g.6072369G=	CA2013897849	VWF	c.1071C= (p.Tyr357=) n.420+38146C=
12	g.6072369G>T	CA114174	VWF	c.1071C>A (p.Tyr357Ter) n.420+38146C>A	ClinVar dbSNP
12	g.6072370T>A	CA383505257	VWF	c.1070A>T (p.Tyr357Phe) n.420+38145A>T
12	g.6072370T>C	CA383505258	VWF	c.1070A>G (p.Tyr357Cys) n.420+38145A>G
12	g.6072370T>G	CA383505259	VWF	c.1070A>C (p.Tyr357Ser) n.420+38145A>C
12	g.6072371A=	CA2013897850	VWF	c.1069T= (p.Tyr357=) n.420+38144T=
12	g.6072371A>C	CA383505262	VWF	c.1069T>G (p.Tyr357Asp) n.420+38144T>G
12	g.6072371A>G	CA383505264	VWF	c.1069T>C (p.Tyr357His) n.420+38144T>C	gnomAD v4
12	g.6072371A>T	CA383505265	VWF	c.1069T>A (p.Tyr357Asn) n.420+38144T>A	dbSNP gnomAD v4
12	g.6072372G>A	CA478105726	VWF	c.1068C>T (p.Arg356=) n.420+38143C>T
12	g.6072372G>C	CA478105727	VWF	c.1068C>G (p.Arg356=) n.420+38143C>G
12	g.6072372G>T	CA478105728	VWF	c.1068C>A (p.Arg356=) n.420+38143C>A
12	g.6072373C>A	CA383505266	VWF	c.1067G>T (p.Arg356Leu) n.420+38142G>T
12	g.6072373C=	CA2013897851	VWF	c.1067G= (p.Arg356=) n.420+38142G=
12	g.6072373C>G	CA383505267	VWF	c.1067G>C (p.Arg356Pro) n.420+38142G>C
12	g.6072373C>T	CA6403569	VWF	c.1067G>A (p.Arg356His) n.420+38142G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6072374G>A	CA6403570	VWF	c.1066C>T (p.Arg356Cys) n.420+38141C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.6072374G>C	CA383505269	VWF	c.1066C>G (p.Arg356Gly) n.420+38141C>G
12	g.6072374G=	CA2013897852	VWF	c.1066C= (p.Arg356=) n.420+38141C=
12	g.6072374G>T	CA383505271	VWF	c.1066C>A (p.Arg356Ser) n.420+38141C>A
12	g.6072375C>A	CA383505274	VWF	c.1065G>T (p.Lys355Asn) n.420+38140G>T	dbSNP gnomAD v4
12	g.6072375C=	CA2013897853	VWF	c.1065G= (p.Lys355=) n.420+38140G=
12	g.6072375C>G	CA383505272	VWF	c.1065G>C (p.Lys355Asn) n.420+38140G>C
12	g.6072375C>T	CA478105729	VWF	c.1065G>A (p.Lys355=) n.420+38140G>A
12	g.6072376T>A	CA383505275	VWF	c.1064A>T (p.Lys355Met) n.420+38139A>T
12	g.6072376T>C	CA383505277	VWF	c.1064A>G (p.Lys355Arg) n.420+38139A>G
12	g.6072376T>G	CA383505279	VWF	c.1064A>C (p.Lys355Thr) n.420+38139A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.6072376T=	CA2013897854	VWF	c.1064A= (p.Lys355=) n.420+38139A=
12	g.6072377T>A	CA383505280	VWF	c.1063A>T (p.Lys355Ter) n.420+38138A>T
12	g.6072377T>C	CA383505281	VWF	c.1063A>G (p.Lys355Glu) n.420+38138A>G
12	g.6072377T>G	CA383505282	VWF	c.1063A>C (p.Lys355Gln) n.420+38138A>C
12	g.6072378T>A	CA478105730	VWF	c.1062A>T (p.Gly354=) n.420+38137A>T
12	g.6072378T>C	CA478105731	VWF	c.1062A>G (p.Gly354=) n.420+38137A>G	dbSNP
12	g.6072378T>G	CA478105732	VWF	c.1062A>C (p.Gly354=) n.420+38137A>C
12	g.6072378T=	CA2013897855	VWF	c.1062A= (p.Gly354=) n.420+38137A=
12	g.6072379C>A	CA383505284	VWF	c.1061G>T (p.Gly354Val) n.420+38136G>T
12	g.6072379C=	CA2013897856	VWF	c.1061G= (p.Gly354=) n.420+38136G=
12	g.6072379C>G	CA383505283	VWF	c.1061G>C (p.Gly354Ala) n.420+38136G>C
12	g.6072379C>T	CA6403571	VWF	c.1061G>A (p.Gly354Glu) n.420+38136G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6072380C>A	CA383505288	VWF	c.1060G>T (p.Gly354Ter) n.420+38135G>T	COSMIC
12	g.6072380C=	CA2013897857	VWF	c.1060G= (p.Gly354=) n.420+38135G=
12	g.6072380C>G	CA383505289	VWF	c.1060G>C (p.Gly354Arg) n.420+38135G>C
12	g.6072380C>T	CA6403572	VWF	c.1060G>A (p.Gly354Arg) n.420+38135G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6072381G>A	CA6403573	VWF	c.1059C>T (p.Ser353=) n.420+38134C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6072381G>C	CA6403574	VWF	c.1059C>G (p.Ser353=) n.420+38134C>G	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.6072381G=	CA2013897858	VWF	c.1059C= (p.Ser353=) n.420+38134C=
12	g.6072381G>T	CA478105733	VWF	c.1059C>A (p.Ser353=) n.420+38134C>A
12	g.6072382G>A	CA383505296	VWF	c.1058C>T (p.Ser353Phe) n.420+38133C>T	gnomAD v4

Number of alleles fetched